Population-based analysis of chromosomal instabilities in bone and soft tissue sarcomas

16例日本Ewing肿瘤可通过比较基因组杂交分析染色体畸变，11例肿瘤可表达嵌合EWS转录物。这些日本患者的结果与欧洲组间合作尤文氏肉瘤研究中登记的62名欧洲高加索患者的ETs结果进行了比较。11个日本et中的10个和62个欧洲高加索et中的31个具有I型（EWS外显子7到FLI1外显子6）融合转录本。在日本et中，11例原发肿瘤和5例复发肿瘤的染色体畸变中位数分别为2.0和6.0。在欧洲高加索et中，52例原发肿瘤和10例复发肿瘤的中位变化数分别为2.5和5.0。日本et的频率增益为8q (38%), 8p（31%）和12q(25%)，欧洲高加索ETs的频率增益为8q (52%), 8p（48%）和12q（19%）。日本ETs的频繁损失为19q（44%）、19p（38%）和17p(25%)，欧洲高加索ETs的频繁损失为16q（21%）、19q（18%）和17p（15%）。日本ETs的19p （P=0.0215）和19q （P=0.0277）损失发生率显著高于欧洲高加索ETs。在14例滑膜肉瘤中，10例检出染色体畸变。获得（4.4）比失去（0.9）更频繁。频繁增益包括在12q15（5例）、12q22（5例）、12q24.3（5例），频繁损失存在于3p14（2例）和6q（2例）。在12q15、12q22和12q24.3观察到高水平增益。12q15 （p=0.021）和12q22 （p=0.021）的增益在单相型中比在双相型中更常见。3q32、4q26-qter、5p、5q14 -q23和11p基因的增加以及1p33-pter、3p21、11q12、16p、17p、22q基因的缺失在欧洲病例中更为常见，而12q15和12q22基因的增加在日本病例中更为常见。

Sixteen Japanese Ewing tumors were available for analysis of chromosomal aberrations by comparative genomic hybridization and 11 tumors for expression of chimeric EWS transcripts. These results in Japanese patients were compared with those of 62 ETs in European Caucasian patients registered in the European Intergroup Cooperative Ewing's Sarcoma Study. Ten of 11 Japanese ETs and 31 of 62 European Caucasian ETs had type I (EWS exon 7 to FLI1 exon 6) fusion transcripts. In Japanese ETs, the median numbers of chromosomal aberrations were 2.0 and 6.0 in 11 primary tumors and five relapsed tumors, respectively. In European Caucasian ETs, the median number of changes were 2.5 and 5.0 in 52 primary and 10 relapsed tumors, respectively. Frequent gains were 8q (38%), 8p (31%) and 12q (25%) in Japanese ETs and 8q (52%), 8p (48%) and 12q (19%) in European Caucasian ETs. Frequent losses were 19q (44%), 19p (38%) and 17p (25%) in Japanese ETs and 16q (21%), 19q (18%) and 17p (15%) in European Caucasian ETs. The incidence of losses of 19p (P=0.0215) and 19q (P=0.0277) were significantly higher in Japanese ETs than in European Caucasian ETs.In 14 cases of synovial sarcoma, chromosomal aberrations were detected in 10 cases. Gain (4.4) was more frequent than loss (0.9). The frequent gain included in 12q15 (5 cases), 12q22 (5 cases), 12q24.3 (5 cases), the frequent losses existed in 3p14 (2 cases) and 6q (2 cases). High-level gain was observed in 12q15, 12q22, and 12q24.3. Gain of 12q15 (p=0.021) and 12q22 (p=0.021) were more frequent in monophasic type than in biphasic type. Gain of 3q32, 4q26-qter, 5p, 5q 14-q23, and 11p and loss of 1p33-pter, 3p21, 11q12, 16p, 17p, 22q were more frequently observed in European cases and gain of 12q 15 and 12q22 were frequent in Japanese cases.